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Updated: Jul 11, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
[MYH associated polyposis: severe phenotype in the homozygosity for the 1103delC mutation]
Susana Mão De Ferro1, Pedro Lage, Alexandra Suspiro
1Serviço de Gastrenterologia, Centro de Investigação em Patologia Molecular, Instituto Português de Oncologia de Lisboa de Francisco Gentil, Lisboa.
Abstract:
MYH-associated polyposis (MAP) is an autosomal recessive disease associated with multiple colonic adenomas and colorectal cancer. Y165C and G382D MYH missense mutations are involved in more than 80% of cases in Caucasians and the large series published do not include patients homozygous for other mutations. We present the report of two siblings homozygous for the nonsense frameshift mutation 1103delC. The proband aged 28 presented with four colonic adenocarcinomas and 20-30 synchronous adenomas. Her sister aged 24 had 20 colonic adenomas and a severe Spigelman's III duodenal adenomatosis. Their parents, aged 60 and 51, heterozygous for the 1103delC MYH mutation, presented 5 and 2 low risk colorectal adenomas, respectively.
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